C5551375[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100731	NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)	SMPD1 (G247S +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +3 more	GPathogenic/Likely pathogenic
Select item 556824	NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter)	CLN6 (Y303*)	Single nucleotide variant (nonsense)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 374774	NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)	CLN6 (W300R)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +3 more	GConflicting classifications of pathogenicity
Select item 550973	NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)	CLN6 (P299L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GPathogenic/Likely pathogenic
Select item 68098	NM_017882.3(CLN6):c.890del (p.Pro297fs)	CLN6 (P297fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 556320	NM_017882.3(CLN6):c.837G>A (p.Trp279Ter)	CLN6 (W279*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 556613	NM_017882.3(CLN6):c.786_787dup (p.Phe263fs)	CLN6 (F263fs)	Microsatellite (frameshift variant)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 555918	NM_017882.3(CLN6):c.775G>T (p.Gly259Cys)	CLN6 (G259C)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 557577	NM_017882.3(CLN6):c.766_770del (p.Asp256fs)	CLN6 (D256fs)	Deletion (frameshift variant)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 205176	NM_017882.3(CLN6):c.755G>A (p.Arg252His)	CLN6 (R252H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 205174	NM_017882.3(CLN6):c.728C>T (p.Ala243Val)	CLN6 (A243V)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 555533	NM_017882.3(CLN6):c.702C>A (p.Phe234Leu)	CLN6 (F234L)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 550772	NM_017882.3(CLN6):c.665G>A (p.Trp222Ter)	CLN6 (W222*)	Single nucleotide variant (nonsense)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 128787	NM_017882.3(CLN6):c.601A>G (p.Lys201Glu)	CLN6 (K201E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GUncertain significance
Select item 551500	NM_017882.3(CLN6):c.543G>A (p.Trp181Ter)	CLN6 (W181*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 553963	NM_017882.3(CLN6):c.542+1G>T	CLN6	Single nucleotide variant (splice donor variant)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 555652	NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys)	CLN6 (Y170C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 552060	NM_017882.3(CLN6):c.506T>C (p.Leu169Pro)	CLN6 (L169P)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 557725	NM_017882.3(CLN6):c.498dup (p.Glu167Ter)	CLN6 (E167*)	Duplication (nonsense)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 555430	NM_017882.3(CLN6):c.486+1G>A	CLN6	Single nucleotide variant (splice donor variant)	Ceroid lipofuscinosis, neuronal, 6A +3 more	GLikely pathogenic
Select item 4083	NC_000015.9:g.68504037_68504039delGAT	CLN6 (I154del)	Microsatellite (inframe_deletion)	Neuronal ceroid lipofuscinosis +4 more	GPathogenic/Likely pathogenic
Select item 68096	NM_017882.3(CLN6):c.446G>A (p.Arg149His)	CLN6 (R149H)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A +3 more	GUncertain significance
Select item 549959	NM_017882.3(CLN6):c.443T>A (p.Val148Asp)	CLN6 (V148D)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 552943	NM_017882.3(CLN6):c.373A>G (p.Ser125Gly)	CLN6 (S125G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 316994	NM_017882.3(CLN6):c.349ATC[2] (p.Ile119del)	CLN6 (I119del)	Microsatellite (inframe_deletion)	Ceroid lipofuscinosis, neuronal, 6A +1 more	GUncertain significance
Select item 30600	NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)	CLN6 (R103Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GPathogenic/Likely pathogenic
Select item 205165	NM_017882.3(CLN6):c.304G>A (p.Glu102Lys)	CLN6 (E102K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 4077	NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)	CLN6 (E72*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +3 more	GPathogenic
Select item 554596	NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)	CLN6 (R62C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely pathogenic
Select item 68094	NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)	CLN6 (Y50*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 30601	NM_017882.3(CLN6):c.139C>T (p.Leu47Phe)	CLN6 (L47F)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6A	GUncertain significance
Select item 551495	NM_017882.3(CLN6):c.83+2T>G	CLN6	Single nucleotide variant (intron variant +1 more)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic
Select item 205180	NM_017882.3(CLN6):c.49G>A (p.Gly17Ser)	CLN6 (G17S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 457969	NM_017882.3(CLN6):c.13C>T (p.Arg5Trp)	CLN6 (R5W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 205179	NM_017882.3(CLN6):c.5A>G (p.Glu2Gly)	CLN6 (E2G)	Single nucleotide variant (missense variant)	Ceroid lipofuscinosis, neuronal, 6B (Kufs type) +4 more	GConflicting classifications of pathogenicity
Select item 556845	NM_017882.3(CLN6):c.1A>G (p.Met1Val)	CLN6 (M1V)	Single nucleotide variant (missense variant +1 more)	Ceroid lipofuscinosis, neuronal, 6A	GLikely pathogenic

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Items: 36